ClinVar Miner

List of variants in gene FBN2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 995
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.4100-265G>A rs32235 0.93193
NM_001999.4(FBN2):c.5201-196A>T rs469294 0.79405
NM_001999.4(FBN2):c.3473-318C>T rs27859 0.78436
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001999.4(FBN2):c.7346-94G>C rs426987 0.69087
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001999.4(FBN2):c.7471+273C>A rs255695 0.68481
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_001999.4(FBN2):c.2303-276G>T rs552850 0.59678
NM_001999.4(FBN2):c.7711+257G>A rs2307108 0.59676
NM_001999.4(FBN2):c.2302+260T>G rs1428632 0.59670
NM_001999.4(FBN2):c.5675-87T>C rs27855 0.48836
NM_001999.4(FBN2):c.3599-119T>C rs32221 0.47658
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_001999.4(FBN2):c.-511G>A rs7712942 0.45082
NM_001999.4(FBN2):c.4879+138C>T rs461146 0.42756
NM_001999.4(FBN2):c.2674+147A>G rs27457 0.35367
NM_001999.4(FBN2):c.533-259A>G rs892863 0.34577
NM_001999.4(FBN2):c.628+208G>A rs6864831 0.34456
NM_001999.4(FBN2):c.2096-224A>G rs331098 0.34407
NM_001999.4(FBN2):c.4223-178A>G rs469722 0.30485
NM_001999.4(FBN2):c.2812+182A>G rs151987 0.30133
NM_001999.4(FBN2):c.4100-216C>A rs458882 0.25186
NM_001999.4(FBN2):c.2863+23G>T rs255690 0.23996
NM_001999.4(FBN2):c.6293-308C>T rs11241955 0.23217
NM_001999.4(FBN2):c.6881-206G>T rs11746935 0.23193
NM_001999.4(FBN2):c.4717+285T>C rs414540 0.21525
NM_001999.4(FBN2):c.5074+298A>T rs612993 0.21372
NM_001999.4(FBN2):c.4345+329C>T rs467928 0.21303
NM_001999.4(FBN2):c.7840+288A>G rs72785104 0.19256
NM_001999.4(FBN2):c.628+118A>T rs6886186 0.16131
NM_001999.4(FBN2):c.7594+231T>A rs1428633 0.15487
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_001999.4(FBN2):c.254+274T>C rs73348280 0.14243
NM_001999.4(FBN2):c.254+303C>G rs73348278 0.14243
NM_001999.4(FBN2):c.255-137T>C rs6865828 0.14231
NM_001999.4(FBN2):c.6511+15A>G rs56131649 0.14023
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_001999.3(FBN2):c.-671T>C rs138741640 0.12465
NM_001999.3(FBN2):c.-697C>G rs141359565 0.12296
NM_001999.4(FBN2):c.6758-83G>A rs32210 0.11114
NM_001999.4(FBN2):c.6758-48T>C rs42688 0.11105
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_001999.4(FBN2):c.6637+191A>C rs39937 0.11088
NM_001999.4(FBN2):c.6758-308A>G rs42280 0.11088
NM_001999.4(FBN2):c.6881-69dup rs3830367 0.11085
NM_001999.4(FBN2):c.1079-243A>C rs10055617 0.11082
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_001999.4(FBN2):c.5918-160T>C rs2307110 0.09460
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_001999.4(FBN2):c.5423-276G>T rs32220 0.09269
NM_001999.4(FBN2):c.6511+157A>G rs32213 0.09221
NM_001999.4(FBN2):c.6511+170T>C rs32212 0.09215
NM_001999.4(FBN2):c.7841-322T>C rs75856965 0.08517
NM_001999.4(FBN2):c.2555-287A>T rs3816905 0.08282
NM_001999.4(FBN2):c.7841-124A>G rs10038028 0.08177
NM_001999.4(FBN2):c.5918-327C>T rs12523609 0.08147
NM_001999.4(FBN2):c.6166+24G>A rs28763934 0.08147
NM_001999.4(FBN2):c.2674+146T>C rs3805639 0.08064
NM_001999.4(FBN2):c.-625G>C rs147684576 0.07968
NM_001999.4(FBN2):c.8364+166A>T rs10077809 0.07924
NM_001999.4(FBN2):c.5201-238A>C rs1978439 0.07881
NM_001999.4(FBN2):c.4879+269T>C rs10076728 0.07877
NM_001999.4(FBN2):c.4718-13T>C rs10044959 0.07765
NM_001999.4(FBN2):c.3343+35T>A rs17676694 0.07729
NM_001999.4(FBN2):c.4594+253A>G rs28763939 0.07074
NM_001999.4(FBN2):c.6167-213G>A rs72785109 0.07029
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_001999.4(FBN2):c.2429-48T>C rs10519991 0.06830
NM_001999.4(FBN2):c.1604-201A>C rs17676891 0.06453
NM_001999.4(FBN2):c.6757+309A>T rs6884264 0.06348
NM_001999.4(FBN2):c.953-333G>A rs3805648 0.05384
NM_001999.4(FBN2):c.5918-202G>A rs28763936 0.05071
NM_001999.4(FBN2):c.5675-9del rs112666443 0.05000
NM_001999.4(FBN2):c.5675-152G>A rs7700608 0.04965
NM_001999.4(FBN2):c.2812+84T>G rs78569930 0.04954
NM_001999.4(FBN2):c.7961-179A>G rs73784560 0.04930
NM_001999.4(FBN2):c.5675-171A>G rs7720552 0.04918
NM_001999.4(FBN2):c.5200+286A>G rs10040006 0.04782
NM_001999.4(FBN2):c.5075-257G>A rs377396 0.04770
NM_001999.4(FBN2):c.4345+183A>G rs469913 0.04579
NM_001999.4(FBN2):c.6292+102T>A rs10036747 0.04500
NM_001999.4(FBN2):c.6512-90C>G rs6883446 0.04499
NM_001999.4(FBN2):c.6292+303A>T rs6871353 0.04497
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_001999.4(FBN2):c.5800+54G>C rs76018296 0.04435
NM_001999.4(FBN2):c.6881-107C>T rs10070948 0.04433
NM_001999.4(FBN2):c.5422+154G>A rs17839648 0.04363
NM_001999.4(FBN2):c.5917+112A>G rs28763937 0.04357
NM_001999.4(FBN2):c.3344-264G>A rs115736330 0.03740
NM_001999.4(FBN2):c.533-92A>G rs112355068 0.03465
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_001999.4(FBN2):c.3973+52C>G rs76351819 0.03206
NM_001999.4(FBN2):c.1231+37C>G rs28763953 0.03099
NM_001999.4(FBN2):c.6637+39A>G rs17608435 0.02889
NM_001999.4(FBN2):c.437-162A>G rs114070767 0.02799
NM_001999.4(FBN2):c.7711+266G>A rs73784561 0.02678
NM_001999.4(FBN2):c.338-89C>A rs58297481 0.02635
NM_001999.3(FBN2):c.-662C>A rs142885655 0.02615
NM_001999.4(FBN2):c.5200+23A>T rs62375018 0.02604
NM_001999.4(FBN2):c.1465+54A>G rs73345284 0.02577
NM_001999.4(FBN2):c.-435C>T rs78230270 0.02535
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_001999.4(FBN2):c.3974-67G>A rs28763944 0.02497
NM_001999.4(FBN2):c.5200+148A>G rs76244360 0.02444
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_001999.4(FBN2):c.2555-184T>G rs62375019 0.02297
NM_001999.4(FBN2):c.2813-37C>A rs28763947 0.02197
NM_001999.4(FBN2):c.6880+100A>G rs17164212 0.02158
NM_001999.4(FBN2):c.1849+149A>G rs112258148 0.02041
NM_001999.4(FBN2):c.8192+244C>T rs41298328 0.02024
NM_001999.4(FBN2):c.5801-71A>G rs76722018 0.01960
NM_001999.4(FBN2):c.337+185A>G rs76039082 0.01884
NM_001999.4(FBN2):c.3472+328T>A rs115522375 0.01652
NM_001999.4(FBN2):c.3724+57C>T rs75170825 0.01593
NM_001999.4(FBN2):c.1465+271A>G rs76462170 0.01561
NM_001999.4(FBN2):c.6758-89A>G rs115576747 0.01416
NM_001999.4(FBN2):c.7471+324C>T rs115903852 0.01416
NM_001999.4(FBN2):c.6445+185C>G rs10428643 0.01415
NM_001999.4(FBN2):c.6293-272A>C rs115533178 0.01411
NM_001999.4(FBN2):c.2674+135C>A rs114126523 0.01371
NM_001999.4(FBN2):c.5917+238A>C rs73343280 0.01325
NM_001999.4(FBN2):c.7960+208C>T rs73341388 0.01276
NM_001999.4(FBN2):c.3343+266G>A rs141806441 0.01236
NM_001999.4(FBN2):c.3343+185T>C rs78932429 0.01176
NM_001999.4(FBN2):c.3343+206T>A rs114326287 0.01137
NM_001999.4(FBN2):c.827-263G>T rs141194324 0.01071
NM_001999.4(FBN2):c.6293-30T>C rs188045597 0.01009
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_001999.4(FBN2):c.2428+109C>A rs28763950 0.00979
NM_001999.4(FBN2):c.254+322G>A rs567063128 0.00967
NM_001999.4(FBN2):c.1232-252A>G rs76328881 0.00950
NM_001999.4(FBN2):c.7471+21A>G rs28763924 0.00946
NM_001999.4(FBN2):c.-262C>T rs540026322 0.00943
NM_001999.4(FBN2):c.827-279G>A rs150728994 0.00923
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_001999.4(FBN2):c.6758-265A>G rs79209596 0.00880
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_001999.4(FBN2):c.6166+182G>A rs145832795 0.00854
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001999.4(FBN2):c.4100-183G>A rs75947137 0.00822
NM_001999.4(FBN2):c.7012+284T>A rs114064152 0.00794
NM_001999.4(FBN2):c.2303-110G>A rs76577069 0.00780
NM_001999.4(FBN2):c.5917+119A>G rs114821306 0.00756
NM_001999.4(FBN2):c.4880-227T>C rs114097132 0.00748
NM_001999.4(FBN2):c.2248+283A>G rs144388289 0.00742
NM_001999.4(FBN2):c.2989+99G>A rs115732686 0.00740
NM_001999.4(FBN2):c.4472-270A>G rs79657892 0.00736
NM_001999.4(FBN2):c.1973-157A>G rs73345265 0.00699
NM_001999.4(FBN2):c.3847+21A>G rs76168790 0.00695
NM_001999.4(FBN2):c.953-277C>T rs116489543 0.00685
NM_001999.4(FBN2):c.953-79C>A rs28763955 0.00684
NM_001999.4(FBN2):c.827-320dup rs200501322 0.00680
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_001999.4(FBN2):c.533-284C>T rs138803815 0.00666
NM_001999.4(FBN2):c.2864-102T>C rs114090698 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_001999.4(FBN2):c.7840+75G>A rs115496876 0.00642
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_001999.4(FBN2):c.826+32G>A rs28763956 0.00626
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_001999.4(FBN2):c.4345+324T>C rs116561386 0.00615
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_001999.4(FBN2):c.6445+300A>G rs73784564 0.00583
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_001999.4(FBN2):c.7471+31T>C rs73784562 0.00561
NM_001999.4(FBN2):c.4717+84T>G rs28763938 0.00542
NM_001999.4(FBN2):c.4594+258T>A rs144663909 0.00536
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_001999.4(FBN2):c.7139-33G>A rs199889927 0.00525
NM_001999.4(FBN2):c.6638-231T>G rs149705092 0.00522
NM_001999.4(FBN2):c.7346-196C>T rs140756341 0.00515
NM_001999.4(FBN2):c.7013-36G>A rs6862010 0.00469
NM_001999.4(FBN2):c.6758-129G>A rs146291176 0.00451
NM_001999.4(FBN2):c.7139-29C>A rs3805625 0.00440
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6512-17G>C rs28763932 0.00427
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_001999.4(FBN2):c.3598+40A>G rs182112935 0.00415
NM_001999.4(FBN2):c.2303-284T>C rs114102715 0.00393
NM_001999.4(FBN2):c.2249-195T>C rs140295103 0.00392
NM_001999.4(FBN2):c.6166+108A>C rs113055228 0.00390
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_001999.4(FBN2):c.2096-256G>A rs115515304 0.00381
NM_001999.4(FBN2):c.3598+166T>G rs141121777 0.00381
NM_001999.4(FBN2):c.8364+71G>A rs151290678 0.00367
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_001999.4(FBN2):c.1078+285A>C rs11957315 0.00342
NM_001999.4(FBN2):c.2989+43A>G rs116837813 0.00342
NM_001999.4(FBN2):c.7595-139A>G rs73341402 0.00341
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_001999.4(FBN2):c.1849+96G>A rs116773938 0.00330
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_001999.4(FBN2):c.338-176G>A rs139820853 0.00326
NM_001999.4(FBN2):c.338-112A>G rs151224144 0.00325
NM_001999.4(FBN2):c.3598+299G>A rs192070791 0.00288
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_001999.4(FBN2):c.8364+43A>G rs28763919 0.00277
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_001999.4(FBN2):c.533-31A>G rs111644147 0.00258
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_001999.4(FBN2):c.533-30T>G rs140941777 0.00240
NM_001999.4(FBN2):c.2675-286T>A rs529363488 0.00234
NM_001999.4(FBN2):c.2428+6T>A rs77493726 0.00225
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_001999.4(FBN2):c.-17C>G rs372089451 0.00199
NM_001999.4(FBN2):c.3218-33C>T rs56381205 0.00197
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00178
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923 0.00175
NM_001999.4(FBN2):c.2303-222G>A rs149810600 0.00173
NM_001999.4(FBN2):c.5074+183C>T rs189302644 0.00167
NM_001999.4(FBN2):c.-24G>C rs190369608 0.00159
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_001999.4(FBN2):c.4595-11G>C rs199640787 0.00135
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_001999.4(FBN2):c.5675-12_5675-11insG rs150372632 0.00133
NM_001999.4(FBN2):c.255-18C>A rs200300875 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_001999.4(FBN2):c.4100-9G>T rs377002313 0.00106
NM_001999.4(FBN2):c.4949-18C>G rs372234336 0.00106
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_001999.4(FBN2):c.4222+12A>G rs79445561 0.00101
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00096
NM_001999.4(FBN2):c.3974-19T>C rs112950479 0.00083
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg) rs143565958 0.00074
NM_001999.4(FBN2):c.436+16G>A rs372098570 0.00068
NM_001999.4(FBN2):c.132G>C (p.Pro44=) rs199702573 0.00067
NM_001999.4(FBN2):c.7841-16G>T rs201231807 0.00063
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000 0.00061
NM_001999.4(FBN2):c.4472-12T>A rs551686237 0.00054
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491 0.00049
NM_001999.4(FBN2):c.5200+32A>C rs56067608 0.00047
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484 0.00042
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg) rs147346327 0.00041
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=) rs149502195 0.00041
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_001999.4(FBN2):c.209T>C (p.Val70Ala) rs144149249 0.00039
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr) rs186577030 0.00038
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818 0.00036
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=) rs147452231 0.00035
NM_001999.4(FBN2):c.6511+4C>T rs368610241 0.00035
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) rs148014419 0.00033
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627 0.00032
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly) rs140464202 0.00031
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr) rs149054177 0.00030
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala) rs149992874 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519 0.00029
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser) rs148493036 0.00028
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_001999.4(FBN2):c.2249-19A>G rs193091226 0.00026
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr) rs139035999 0.00026
NM_001999.4(FBN2):c.5353+16G>A rs187448568 0.00026
NM_001999.4(FBN2):c.8364+18dup rs752497923 0.00026
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00024
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638 0.00022
NM_001999.4(FBN2):c.5917+9T>G rs371439173 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592 0.00021
NM_001999.4(FBN2):c.8364+34T>G rs138170806 0.00021
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=) rs137914321 0.00020
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_001999.4(FBN2):c.1466-4G>A rs371636769 0.00017
NM_001999.4(FBN2):c.5548+39T>C rs190452627 0.00017
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980 0.00016
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558 0.00015
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys) rs375666281 0.00014
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln) rs376194507 0.00014
NM_001999.4(FBN2):c.3341C>T (p.Thr1114Met) rs202219940 0.00014
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile) rs140313460 0.00014
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) rs545524318 0.00014
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly) rs199560824 0.00014
NM_001999.4(FBN2):c.7841-17C>T rs371643668 0.00014
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=) rs201071253 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_001999.4(FBN2):c.2469C>T (p.Asn823=) rs770997817 0.00012
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142 0.00012
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu) rs141707850 0.00012
NM_001999.4(FBN2):c.7594+12G>A rs184678810 0.00012
NM_001999.4(FBN2):c.8192+8G>A rs184132548 0.00012
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072 0.00011
NM_001999.4(FBN2):c.2108G>A (p.Arg703His) rs567790419 0.00011
NM_001999.4(FBN2):c.2989+20G>A rs374450061 0.00011
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=) rs138665246 0.00011
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933 0.00011
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val) rs141854054 0.00011
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758 0.00011
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.2249-15C>A rs759195113 0.00010
NM_001999.4(FBN2):c.2717G>A (p.Arg906His) rs370973542 0.00010
NM_001999.4(FBN2):c.2856G>T (p.Thr952=) rs556038110 0.00010
NM_001999.4(FBN2):c.3472+17C>A rs747730357 0.00010
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met) rs2307109 0.00010
NM_001999.4(FBN2):c.8193-6A>G rs371741283 0.00010
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203 0.00010
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 0.00009
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val) rs144933639 0.00009
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098 0.00009
NM_001999.4(FBN2):c.5549-18G>A rs371995872 0.00009
NM_001999.4(FBN2):c.7497G>A (p.Pro2499=) rs756747736 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=) rs190292877 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00008
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=) rs201634501 0.00008
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg) rs745528502 0.00007
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582 0.00007
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu) rs200481467 0.00007
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011 0.00007
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu) rs149537608 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.6063C>T (p.Val2021=) rs149380208 0.00007
NM_001999.4(FBN2):c.6512-7A>G rs201462445 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_001999.4(FBN2):c.1181G>A (p.Arg394His) rs150790914 0.00006
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973 0.00006
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00006
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323 0.00006
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=) rs185809581 0.00006
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn) rs759131544 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu) rs766271753 0.00006
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=) rs374456115 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=) rs139098335 0.00006
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu) rs139189178 0.00005
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp) rs863223554 0.00005
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512 0.00005
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His) rs751600209 0.00005
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=) rs774807410 0.00005
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994 0.00005
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=) rs753387547 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_001999.4(FBN2):c.5674+18T>G rs199749609 0.00005
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604 0.00005
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=) rs770778839 0.00005
NM_001999.4(FBN2):c.1078+12A>C rs769211487 0.00004
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545 0.00004
NM_001999.4(FBN2):c.1643A>C (p.Asp548Ala) rs757406333 0.00004
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser) rs767317022 0.00004
NM_001999.4(FBN2):c.2358C>T (p.Asn786=) rs371981691 0.00004
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.2555-6T>C rs376507178 0.00004
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875 0.00004
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser) rs775844150 0.00004
NM_001999.4(FBN2):c.3602T>C (p.Ile1201Thr) rs755127278 0.00004
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met) rs368105987 0.00004
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556 0.00004
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352 0.00004
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly) rs765649978 0.00004
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His) rs139428175 0.00004
NM_001999.4(FBN2):c.4222+10C>A rs376700480 0.00004
NM_001999.4(FBN2):c.4259G>A (p.Ser1420Asn) rs751406554 0.00004
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu) rs771467729 0.00004
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys) rs374493286 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His) rs776040052 0.00004
NM_001999.4(FBN2):c.5200+11A>C rs863223545 0.00004
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser) rs750837082 0.00004
NM_001999.4(FBN2):c.6004A>G (p.Asn2002Asp) rs773305589 0.00004
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser) rs772994944 0.00004
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207 0.00004
NM_001999.4(FBN2):c.645G>A (p.Pro215=) rs764473594 0.00004
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp) rs537628586 0.00004
NM_001999.4(FBN2):c.6556C>G (p.Gln2186Glu) rs1415043313 0.00004
NM_001999.4(FBN2):c.6628C>T (p.Arg2210Cys) rs200158069 0.00004
NM_001999.4(FBN2):c.704C>T (p.Thr235Met) rs367767903 0.00004
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=) rs746265117 0.00004
NM_001999.4(FBN2):c.7878C>T (p.His2626=) rs587780943 0.00004
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu) rs746473847 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val) rs863223615 0.00004
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn) rs747748647 0.00004
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp) rs762615993 0.00003
NM_001999.4(FBN2):c.1424G>T (p.Gly475Val) rs56312356 0.00003
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu) rs199587570 0.00003
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788 0.00003
NM_001999.4(FBN2):c.2634G>A (p.Ser878=) rs143905167 0.00003
NM_001999.4(FBN2):c.2674+10A>G rs371734006 0.00003
NM_001999.4(FBN2):c.338-7T>G rs763168964 0.00003
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=) rs374833053 0.00003
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu) rs142185964 0.00003
NM_001999.4(FBN2):c.3840G>A (p.Ser1280=) rs372613935 0.00003
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His) rs771260299 0.00003
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=) rs144018137 0.00003
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222 0.00003
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser) rs1085307788 0.00003
NM_001999.4(FBN2):c.5353+11G>A rs572393472 0.00003
NM_001999.4(FBN2):c.5548+20T>C rs372334617 0.00003
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200 0.00003
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478 0.00003
NM_001999.4(FBN2):c.629-19T>C rs374428361 0.00003
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=) rs552637321 0.00003
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln) rs370804151 0.00003
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428 0.00003
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn) rs779483120 0.00003
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala) rs752627315 0.00003
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=) rs145809024 0.00003
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=) rs771507975 0.00003
NM_001999.4(FBN2):c.81C>T (p.Ala27=) rs746484599 0.00003
NM_001999.4(FBN2):c.8253C>T (p.Val2751=) rs140631421 0.00003
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068 0.00003
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=) rs371397121 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576 0.00003
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys) rs781069799 0.00003
NM_001999.4(FBN2):c.93G>T (p.Gln31His) rs371491169 0.00003
NM_001999.4(FBN2):c.1238A>G (p.Tyr413Cys) rs576123258 0.00002
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu) rs773011327 0.00002
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly) rs143515269 0.00002
NM_001999.4(FBN2):c.1365G>T (p.Gly455=) rs794726987 0.00002
NM_001999.4(FBN2):c.1410C>T (p.Gly470=) rs750103822 0.00002
NM_001999.4(FBN2):c.1412T>C (p.Val471Ala) rs928205576 0.00002
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp) rs371046485 0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00002
NM_001999.4(FBN2):c.1973-20T>C rs774598343 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2144G>A (p.Cys715Tyr) rs766592611 0.00002
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg) rs1204171410 0.00002
NM_001999.4(FBN2):c.255-15G>A rs587780942 0.00002
NM_001999.4(FBN2):c.2772C>T (p.Leu924=) rs773453872 0.00002
NM_001999.4(FBN2):c.2802G>A (p.Arg934=) rs140500093 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.2941G>A (p.Glu981Lys) rs758694112 0.00002
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572 0.00002
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly) rs770483769 0.00002
NM_001999.4(FBN2):c.3700A>G (p.Thr1234Ala) rs745525613 0.00002
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val) rs776567929 0.00002
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu) rs778566871 0.00002
NM_001999.4(FBN2):c.4343C>T (p.Ser1448Leu) rs1222584747 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847 0.00002
NM_001999.4(FBN2):c.4962C>T (p.Cys1654=) rs753935960 0.00002
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser) rs769474473 0.00002
NM_001999.4(FBN2):c.533-6A>G rs56400997 0.00002
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His) rs368384428 0.00002
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=) rs746592808 0.00002
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=) rs746307443 0.00002
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile) rs763393398 0.00002
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile) rs527609978 0.00002
NM_001999.4(FBN2):c.629-6T>C rs757696693 0.00002
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser) rs1016100479 0.00002
NM_001999.4(FBN2):c.672G>T (p.Met224Ile) rs371292311 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser) rs751231315 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.69G>T (p.Ala23=) rs774856011 0.00002
NM_001999.4(FBN2):c.6G>C (p.Gly2=) rs746567292 0.00002
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702 0.00002
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser) rs562508529 0.00002
NM_001999.4(FBN2):c.7511A>G (p.Tyr2504Cys) rs764032053 0.00002
NM_001999.4(FBN2):c.7595-13T>C rs747620496 0.00002
NM_001999.4(FBN2):c.785G>A (p.Arg262Gln) rs763997393 0.00002
NM_001999.4(FBN2):c.7960+13T>G rs1023942727 0.00002
NM_001999.4(FBN2):c.7961-10G>A rs752746367 0.00002
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564 0.00002
NM_001999.4(FBN2):c.8207G>A (p.Gly2736Glu) rs149180427 0.00002
NM_001999.4(FBN2):c.8497C>T (p.Arg2833Cys) rs863223592 0.00002
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954 0.00002
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met) rs754475064 0.00002
NM_001999.4(FBN2):c.-2C>A rs776371080 0.00001
NM_001999.4(FBN2):c.1079-14T>G rs754310681 0.00001
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met) rs371826887 0.00001
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly) rs763202121 0.00001
NM_001999.4(FBN2):c.1180C>T (p.Arg394Cys) rs563228953 0.00001
NM_001999.4(FBN2):c.1286G>T (p.Ser429Ile) rs749969520 0.00001
NM_001999.4(FBN2):c.1301C>G (p.Pro434Arg) rs761606981 0.00001
NM_001999.4(FBN2):c.1338C>G (p.Gly446=) rs1060504933 0.00001
NM_001999.4(FBN2):c.1346A>G (p.Asn449Ser) rs759805834 0.00001
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp) rs748584140 0.00001
NM_001999.4(FBN2):c.1502A>C (p.His501Pro) rs773361111 0.00001
NM_001999.4(FBN2):c.1525C>T (p.Arg509Cys) rs775037345 0.00001
NM_001999.4(FBN2):c.1616G>A (p.Cys539Tyr) rs1456682417 0.00001
NM_001999.4(FBN2):c.1765G>A (p.Gly589Ser) rs1057523294 0.00001
NM_001999.4(FBN2):c.1812C>T (p.Ala604=) rs745811885 0.00001
NM_001999.4(FBN2):c.1813G>A (p.Gly605Ser) rs863223553 0.00001
NM_001999.4(FBN2):c.1841A>T (p.Asn614Ile) rs770876270 0.00001
NM_001999.4(FBN2):c.1902T>C (p.Asn634=) rs553052214 0.00001
NM_001999.4(FBN2):c.1938A>G (p.Gly646=) rs1057518608 0.00001
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_001999.4(FBN2):c.2096-13del rs746826953 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.2160C>T (p.Pro720=) rs889188442 0.00001
NM_001999.4(FBN2):c.219C>T (p.Arg73=) rs1208524038 0.00001
NM_001999.4(FBN2):c.220G>A (p.Val74Ile) rs779812100 0.00001
NM_001999.4(FBN2):c.2222G>A (p.Cys741Tyr) rs1751862882 0.00001
NM_001999.4(FBN2):c.2429-11G>A rs201849584 0.00001
NM_001999.4(FBN2):c.2487G>T (p.Thr829=) rs779455710 0.00001
NM_001999.4(FBN2):c.2522A>G (p.Tyr841Cys) rs762606715 0.00001
NM_001999.4(FBN2):c.257C>G (p.Pro86Arg) rs749819006 0.00001
NM_001999.4(FBN2):c.2675A>G (p.Asp892Gly) rs863223558 0.00001
NM_001999.4(FBN2):c.2731A>G (p.Ile911Val) rs368766120 0.00001
NM_001999.4(FBN2):c.2813-12T>C rs1395669341 0.00001
NM_001999.4(FBN2):c.2864-12A>G rs1234935460 0.00001
NM_001999.4(FBN2):c.2989+14C>T rs775432537 0.00001
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro) rs863223562 0.00001
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg) rs758659538 0.00001
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr) rs765437414 0.00001
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607 0.00001
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile) rs863223602 0.00001
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005 0.00001
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=) rs761867143 0.00001
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp) rs771385579 0.00001
NM_001999.4(FBN2):c.3563G>A (p.Gly1188Glu) rs748888503 0.00001
NM_001999.4(FBN2):c.3565C>T (p.His1189Tyr) rs779690646 0.00001
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys) rs755737169 0.00001
NM_001999.4(FBN2):c.3577C>T (p.Pro1193Ser) rs749905043 0.00001
NM_001999.4(FBN2):c.3583C>T (p.Arg1195Cys) rs757232992 0.00001
NM_001999.4(FBN2):c.3685C>T (p.Pro1229Ser) rs772682329 0.00001
NM_001999.4(FBN2):c.3721A>G (p.Thr1241Ala) rs754701797 0.00001
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=) rs750559514 0.00001
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe) rs1263059454 0.00001
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys) rs922751471 0.00001
NM_001999.4(FBN2):c.3932A>G (p.Tyr1311Cys) rs762514246 0.00001
NM_001999.4(FBN2):c.3974-12T>C rs1328132019 0.00001
NM_001999.4(FBN2):c.3976G>A (p.Val1326Ile) rs763789417 0.00001
NM_001999.4(FBN2):c.4223-14G>T rs370506719 0.00001
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=) rs147046215 0.00001
NM_001999.4(FBN2):c.42G>T (p.Leu14=) rs376407285 0.00001
NM_001999.4(FBN2):c.4332C>T (p.Gly1444=) rs1750666396 0.00001
NM_001999.4(FBN2):c.4352A>G (p.Asp1451Gly) rs766483687 0.00001
NM_001999.4(FBN2):c.436+20C>T rs1168120609 0.00001
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356 0.00001
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=) rs751938197 0.00001
NM_001999.4(FBN2):c.4585A>G (p.Asn1529Asp) rs1085307489 0.00001
NM_001999.4(FBN2):c.4594+15C>T rs763542250 0.00001
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475 0.00001
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=) rs886038504 0.00001
NM_001999.4(FBN2):c.472A>T (p.Thr158Ser) rs886059904 0.00001
NM_001999.4(FBN2):c.477T>C (p.Cys159=) rs138601900 0.00001
NM_001999.4(FBN2):c.4864C>A (p.Pro1622Thr) rs750116860 0.00001
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala) rs139830237 0.00001
NM_001999.4(FBN2):c.4879+7A>G rs555328744 0.00001
NM_001999.4(FBN2):c.488A>G (p.His163Arg) rs1029299660 0.00001
NM_001999.4(FBN2):c.5063G>A (p.Arg1688His) rs770803581 0.00001
NM_001999.4(FBN2):c.5120C>T (p.Thr1707Ile) rs572030603 0.00001
NM_001999.4(FBN2):c.5174A>T (p.Gln1725Leu) rs1402545685 0.00001
NM_001999.4(FBN2):c.5201-3T>C rs1057521162 0.00001
NM_001999.4(FBN2):c.5201-6A>G rs879942478 0.00001
NM_001999.4(FBN2):c.522T>C (p.Tyr174=) rs573915338 0.00001
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser) rs760065931 0.00001
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala) rs779202876 0.00001
NM_001999.4(FBN2):c.533-4G>T rs372596001 0.00001
NM_001999.4(FBN2):c.5353+20A>G rs759401474 0.00001
NM_001999.4(FBN2):c.5424C>T (p.Asp1808=) rs774758393 0.00001
NM_001999.4(FBN2):c.5426T>C (p.Ile1809Thr) rs766034866 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_001999.4(FBN2):c.5502A>G (p.Glu1834=) rs373545461 0.00001
NM_001999.4(FBN2):c.5549-8T>A rs1339062362 0.00001
NM_001999.4(FBN2):c.5570G>A (p.Gly1857Asp) rs1450254210 0.00001
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser) rs745759959 0.00001
NM_001999.4(FBN2):c.5692G>A (p.Glu1898Lys) rs767932789 0.00001
NM_001999.4(FBN2):c.574G>A (p.Gly192Arg) rs376398925 0.00001
NM_001999.4(FBN2):c.5845A>G (p.Lys1949Glu) rs1064796980 0.00001
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys) rs758369648 0.00001
NM_001999.4(FBN2):c.5999T>A (p.Leu2000Gln) rs766604067 0.00001
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=) rs1131691293 0.00001
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu) rs863223611 0.00001
NM_001999.4(FBN2):c.617A>T (p.Gln206Leu) rs1207752455 0.00001
NM_001999.4(FBN2):c.6298C>T (p.Arg2100Cys) rs1425263303 0.00001
NM_001999.4(FBN2):c.6445+11T>C rs766726816 0.00001
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=) rs1199375914 0.00001
NM_001999.4(FBN2):c.6477T>C (p.His2159=) rs768972914 0.00001
NM_001999.4(FBN2):c.6512-3T>C rs764271022 0.00001
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=) rs757216544 0.00001
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His) rs144887443 0.00001
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076 0.00001
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser) rs863223582 0.00001
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=) rs754724355 0.00001
NM_001999.4(FBN2):c.6805A>G (p.Met2269Val) rs943225631 0.00001
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val) rs756798856 0.00001
NM_001999.4(FBN2):c.6923G>A (p.Arg2308Lys) rs765129486 0.00001
NM_001999.4(FBN2):c.6949G>A (p.Gly2317Ser) rs863223613 0.00001
NM_001999.4(FBN2):c.6959T>C (p.Met2320Thr) rs749681942 0.00001
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=) rs28763928 0.00001
NM_001999.4(FBN2):c.6996T>C (p.Asp2332=) rs753673393 0.00001
NM_001999.4(FBN2):c.7013-18T>C rs375140877 0.00001
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys) rs863223586 0.00001
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln) rs757161476 0.00001
NM_001999.4(FBN2):c.7167G>A (p.Glu2389=) rs761050040 0.00001
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn) rs758124873 0.00001
NM_001999.4(FBN2):c.7256G>T (p.Gly2419Val) rs762058983 0.00001
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689 0.00001
NM_001999.4(FBN2):c.7324G>A (p.Gly2442Arg) rs750984768 0.00001
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile) rs201883128 0.00001
NM_001999.4(FBN2):c.7345G>A (p.Asp2449Asn) rs759198660 0.00001
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val) rs373370945 0.00001
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val) rs863223546 0.00001
NM_001999.4(FBN2):c.7472-17A>G rs773888786 0.00001
NM_001999.4(FBN2):c.7553C>T (p.Pro2518Leu) rs776761421 0.00001
NM_001999.4(FBN2):c.7565T>C (p.Val2522Ala) rs886039005 0.00001
NM_001999.4(FBN2):c.7595-8A>G rs878854479 0.00001
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu) rs770193908 0.00001
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe) rs146316163 0.00001
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp) rs151329128 0.00001
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg) rs768750542 0.00001
NM_001999.4(FBN2):c.791G>A (p.Gly264Asp) rs746046058 0.00001
NM_001999.4(FBN2):c.7960+5G>A rs863223590 0.00001
NM_001999.4(FBN2):c.7961-11C>T rs751924753 0.00001
NM_001999.4(FBN2):c.7961-19T>A rs1057524211 0.00001
NM_001999.4(FBN2):c.8062C>G (p.Gln2688Glu) rs539853433 0.00001
NM_001999.4(FBN2):c.8193-7C>G rs754837805 0.00001
NM_001999.4(FBN2):c.8196C>T (p.His2732=) rs780426123 0.00001
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys) rs772841538 0.00001
NM_001999.4(FBN2):c.830T>C (p.Val277Ala) rs961188237 0.00001
NM_001999.4(FBN2):c.8321A>T (p.Asp2774Val) rs1351974492 0.00001
NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr) rs745600341 0.00001
NM_001999.4(FBN2):c.8387G>C (p.Ser2796Thr) rs751287011 0.00001
NM_001999.4(FBN2):c.8458G>A (p.Glu2820Lys) rs752384882 0.00001
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly) rs768293070 0.00001
NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser) rs779659640 0.00001
NM_001999.4(FBN2):c.951A>G (p.Glu317=) rs1326391832 0.00001
GRCh37/hg19 5q23.3(chr5:127744084-127866529)x1
NM_001999.4(FBN2):c.*322_*323dup rs536242166
NM_001999.4(FBN2):c.*323dup rs536242166
NM_001999.4(FBN2):c.*93TAA[2] rs199925656
NM_001999.4(FBN2):c.-33C>A rs1057521647
NM_001999.4(FBN2):c.1053C>T (p.Thr351=) rs1554067080
NM_001999.4(FBN2):c.1055C>T (p.Ser352Leu) rs863223548
NM_001999.4(FBN2):c.1069C>T (p.Arg357Ter) rs1752991946
NM_001999.4(FBN2):c.1078+20G>A rs1057524321
NM_001999.4(FBN2):c.1123T>C (p.Cys375Arg) rs771054241
NM_001999.4(FBN2):c.1131del (p.Glu378fs)
NM_001999.4(FBN2):c.1167C>T (p.Cys389=) rs757599652
NM_001999.4(FBN2):c.1201A>G (p.Ile401Val) rs863223549
NM_001999.4(FBN2):c.1231+221_1231+222dup rs145849030
NM_001999.4(FBN2):c.1270G>A (p.Gly424Arg) rs863223550
NM_001999.4(FBN2):c.1316G>A (p.Gly439Glu) rs1554066016
NM_001999.4(FBN2):c.1328C>T (p.Ala443Val) rs863223551
NM_001999.4(FBN2):c.1339AATGGC[3] (p.447NG[3]) rs863223593
NM_001999.4(FBN2):c.1398C>T (p.Gly466=) rs1554066010
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu) rs138046782
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg) rs200440156
NM_001999.4(FBN2):c.142C>A (p.Arg48=) rs1409799200
NM_001999.4(FBN2):c.1443G>C (p.Gln481His) rs923812426
NM_001999.4(FBN2):c.1453A>G (p.Ile485Val) rs772773731
NM_001999.4(FBN2):c.14G>C (p.Arg5Pro) rs1194684025
NM_001999.4(FBN2):c.1530T>C (p.Cys510=) rs376596781
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.1604-121C>T rs56090677
NM_001999.4(FBN2):c.1607_1609del (p.Val536del) rs863223594
NM_001999.4(FBN2):c.1724-148_1724-146dup rs373419300
NM_001999.4(FBN2):c.1724-148dup rs373419300
NM_001999.4(FBN2):c.1724-2A>G rs876661172
NM_001999.4(FBN2):c.1724-4C>A rs886432251
NM_001999.4(FBN2):c.1727T>C (p.Ile576Thr) rs863223552
NM_001999.4(FBN2):c.1763dup (p.Asn588fs) rs863223595
NM_001999.4(FBN2):c.1774G>A (p.Val592Met) rs762427107
NM_001999.4(FBN2):c.1780A>C (p.Thr594Pro) rs1554064868
NM_001999.4(FBN2):c.1784A>T (p.Asp595Val)
NM_001999.4(FBN2):c.1798T>C (p.Cys600Arg) rs1752120226
NM_001999.4(FBN2):c.1832A>C (p.Asp611Ala) rs1752118700
NM_001999.4(FBN2):c.1849+12G>A rs777910433
NM_001999.4(FBN2):c.1849+201del rs35072875
NM_001999.4(FBN2):c.1901A>G (p.Asn634Ser) rs748715881
NM_001999.4(FBN2):c.1922G>A (p.Cys641Tyr) rs863223555
NM_001999.4(FBN2):c.1924A>G (p.Ile642Val) rs863223598
NM_001999.4(FBN2):c.1988A>C (p.Gln663Pro) rs863223556
NM_001999.4(FBN2):c.2029G>A (p.Glu677Lys) rs753334611
NM_001999.4(FBN2):c.2095+7_2095+22delinsT rs1064794511
NM_001999.4(FBN2):c.2096-306A>C rs115985327
NM_001999.4(FBN2):c.2150G>T (p.Arg717Leu) rs773896695
NM_001999.4(FBN2):c.2155T>C (p.Phe719Leu) rs863223557
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser) rs149733159
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg) rs149733159
NM_001999.4(FBN2):c.2219C>T (p.Pro740Leu) rs1204171410
NM_001999.4(FBN2):c.2296G>A (p.Gly766Arg) rs1393754058
NM_001999.4(FBN2):c.2302+122_2302+125del rs10594722
NM_001999.4(FBN2):c.2302+239_2302+242del rs72383481
NM_001999.4(FBN2):c.2361_2362insAA (p.Arg788fs) rs1554063788
NM_001999.4(FBN2):c.2384G>C (p.Cys795Ser) rs1057524398
NM_001999.4(FBN2):c.245T>G (p.Val82Gly)
NM_001999.4(FBN2):c.2479C>G (p.Arg827Gly) rs574985859
NM_001999.4(FBN2):c.2507C>T (p.Thr836Met) rs957177447
NM_001999.4(FBN2):c.2515C>A (p.Pro839Thr) rs751263399
NM_001999.4(FBN2):c.2516C>T (p.Pro839Leu) rs1283323687
NM_001999.4(FBN2):c.254+145dup rs55694313
NM_001999.4(FBN2):c.254+90A>T rs73348283
NM_001999.4(FBN2):c.255-3C>G rs2112809259
NM_001999.4(FBN2):c.2554+134del rs3215047
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.4(FBN2):c.2602A>G (p.Asn868Asp)
NM_001999.4(FBN2):c.2675-220del rs5871304
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg) rs778473524
NM_001999.4(FBN2):c.2687G>A (p.Gly896Glu) rs767271613
NM_001999.4(FBN2):c.2698C>T (p.Leu900Phe) rs1057524854
NM_001999.4(FBN2):c.2717G>T (p.Arg906Leu) rs370973542
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg) rs863223599
NM_001999.4(FBN2):c.2750A>T (p.Lys917Ile)
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg) rs111405756
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr) rs863223559
NM_001999.4(FBN2):c.2812+85A>C rs75495030
NM_001999.4(FBN2):c.2825C>G (p.Pro942Arg) rs1751304438
NM_001999.4(FBN2):c.2827A>G (p.Arg943Gly) rs863223560
NM_001999.4(FBN2):c.2856G>A (p.Thr952=) rs556038110
NM_001999.4(FBN2):c.2878G>A (p.Glu960Lys) rs876661212
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.2968G>A (p.Gly990Arg) rs749854367
NM_001999.4(FBN2):c.3218-191del rs143617398
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=) rs1345516642
NM_001999.4(FBN2):c.3241C>G (p.Pro1081Ala) rs863223601
NM_001999.4(FBN2):c.3281G>A (p.Gly1094Glu) rs863223563
NM_001999.4(FBN2):c.3344-277C>T rs138839469
NM_001999.4(FBN2):c.3347T>G (p.Ile1116Ser) rs2126903891
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys) rs1348701377
NM_001999.4(FBN2):c.3360G>T (p.Arg1120Ser) rs863223564
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile) rs863223565
NM_001999.4(FBN2):c.3469A>G (p.Met1157Val) rs876661190
NM_001999.4(FBN2):c.3473-1G>C rs2126902237
NM_001999.4(FBN2):c.3475A>T (p.Ile1159Phe) rs765793736
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) rs886039059
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His) rs1297011367
NM_001999.4(FBN2):c.3566A>C (p.His1189Pro) rs863223566
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) rs863223567
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe) rs2126898748
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr) rs2126898679
NM_001999.4(FBN2):c.3640G>A (p.Gly1214Arg) rs2126898656
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr) rs1750830797
NM_001999.4(FBN2):c.3709C>A (p.Arg1237Ser) rs746570981
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.3724+2T>C rs863223570
NM_001999.4(FBN2):c.3725-2del rs1554122858
NM_001999.4(FBN2):c.3847+1G>T rs863223604
NM_001999.4(FBN2):c.3847+5A>G rs1444917250
NM_001999.4(FBN2):c.3848-10G>A rs140017238
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.3874G>T (p.Asp1292Tyr)
NM_001999.4(FBN2):c.3902A>G (p.Asn1301Ser) rs1018624400
NM_001999.4(FBN2):c.3907C>A (p.Pro1303Thr) rs2126896759
NM_001999.4(FBN2):c.3973+96_3973+98del rs547745692
NM_001999.4(FBN2):c.3985T>C (p.Cys1329Arg) rs2126895513
NM_001999.4(FBN2):c.4087A>G (p.Thr1363Ala) rs863223571
NM_001999.4(FBN2):c.4121G>T (p.Gly1374Val) rs2126892178
NM_001999.4(FBN2):c.4132T>C (p.Cys1378Arg) rs863223606
NM_001999.4(FBN2):c.4140G>C (p.Met1380Ile)
NM_001999.4(FBN2):c.4157A>G (p.Asn1386Ser)
NM_001999.4(FBN2):c.4193G>T (p.Gly1398Val) rs2126892048
NM_001999.4(FBN2):c.4195T>G (p.Trp1399Gly)
NM_001999.4(FBN2):c.4222+5G>A rs1554122550
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=) rs138289440
NM_001999.4(FBN2):c.4244G>T (p.Gly1415Val) rs2126889179
NM_001999.4(FBN2):c.4249C>T (p.His1417Tyr) rs863223572
NM_001999.4(FBN2):c.4261A>C (p.Ile1421Leu) rs863223607
NM_001999.4(FBN2):c.4274G>A (p.Cys1425Tyr)
NM_001999.4(FBN2):c.4316G>A (p.Gly1439Asp) rs886039151
NM_001999.4(FBN2):c.4324G>T (p.Gly1442Cys)
NM_001999.4(FBN2):c.4325G>T (p.Gly1442Val) rs1581220577
NM_001999.4(FBN2):c.4357T>C (p.Cys1453Arg) rs2126886879
NM_001999.4(FBN2):c.437-1G>A rs1180913191
NM_001999.4(FBN2):c.4375C>G (p.Leu1459Val) rs863223573
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.4472-18_4472-17delinsA rs863223596
NM_001999.4(FBN2):c.4472-332del rs202017177
NM_001999.4(FBN2):c.4472A>T (p.Asp1491Val) rs2126854670
NM_001999.4(FBN2):c.4474A>T (p.Ile1492Phe) rs775167440
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg) rs1750289332
NM_001999.4(FBN2):c.4540C>T (p.His1514Tyr) rs863223608
NM_001999.4(FBN2):c.4550G>A (p.Cys1517Tyr) rs1057521951
NM_001999.4(FBN2):c.455G>A (p.Arg152Lys) rs754613587
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=) rs1434367982
NM_001999.4(FBN2):c.4577C>G (p.Thr1526Arg) rs2126854542
NM_001999.4(FBN2):c.4589G>T (p.Cys1530Phe)
NM_001999.4(FBN2):c.4594+1del rs2126854515
NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn) rs863223574
NM_001999.4(FBN2):c.4615C>G (p.Pro1539Ala) rs761783629
NM_001999.4(FBN2):c.4626T>C (p.Cys1542=) rs2126853786
NM_001999.4(FBN2):c.4646A>G (p.Asn1549Ser) rs863223575
NM_001999.4(FBN2):c.4658G>A (p.Arg1553His)
NM_001999.4(FBN2):c.4714G>T (p.Val1572Phe) rs535517270
NM_001999.4(FBN2):c.4717+25_4717+28del rs1064795498
NM_001999.4(FBN2):c.4729G>T (p.Gly1577Cys)
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4757GAG[1] (p.Gly1587del) rs2126847728
NM_001999.4(FBN2):c.4810T>C (p.Ser1604Pro) rs2126847651
NM_001999.4(FBN2):c.4815A>C (p.Ser1605=) rs377657220
NM_001999.4(FBN2):c.4831G>A (p.Gly1611Arg) rs2126847628
NM_001999.4(FBN2):c.4831G>T (p.Gly1611Ter) rs2126847628
NM_001999.4(FBN2):c.4858_4861del (p.Thr1620fs)
NM_001999.4(FBN2):c.4880-12A>G rs376111927
NM_001999.4(FBN2):c.4884A>C (p.Glu1628Asp)
NM_001999.4(FBN2):c.4928C>G (p.Pro1643Arg) rs863223609
NM_001999.4(FBN2):c.4949-3T>A rs863223576
NM_001999.4(FBN2):c.5032C>G (p.Pro1678Ala)
NM_001999.4(FBN2):c.5045A>G (p.Tyr1682Cys) rs769474473
NM_001999.4(FBN2):c.5074+121dup rs3215046
NM_001999.4(FBN2):c.5074+132del rs3215046
NM_001999.4(FBN2):c.5075-256_5075-255del rs201693348
NM_001999.4(FBN2):c.5075-297_5075-277del rs201573285
NM_001999.4(FBN2):c.5075-298_5075-279del rs1488546323
NM_001999.4(FBN2):c.5075-299_5075-279del rs1354644213
NM_001999.4(FBN2):c.5075-299_5075-281del rs1392519595
NM_001999.4(FBN2):c.5075-299_5075-283del rs1200541681
NM_001999.4(FBN2):c.5075-299_5075-285del rs1221812324
NM_001999.4(FBN2):c.5075-300_5075-279del rs1203100960
NM_001999.4(FBN2):c.5075-300_5075-281del rs758372624
NM_001999.4(FBN2):c.5075-300_5075-283del rs1340754117
NM_001999.4(FBN2):c.5075-301_5075-281del rs1460506967
NM_001999.4(FBN2):c.5075-301_5075-283del rs1270124432
NM_001999.4(FBN2):c.5075-302_5075-281del rs1415048918
NM_001999.4(FBN2):c.5075-302_5075-283del rs1225747622
NM_001999.4(FBN2):c.5075-302_5075-295del rs199690802
NM_001999.4(FBN2):c.5075-304_5075-295del rs199690802
NM_001999.4(FBN2):c.5075-7A>C rs946913190
NM_001999.4(FBN2):c.5075A>G (p.Asp1692Gly)
NM_001999.4(FBN2):c.5124C>G (p.Cys1708Trp)
NM_001999.4(FBN2):c.5147C>G (p.Thr1716Ser) rs2126843757
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5196C>T (p.Cys1732=) rs1554120180
NM_001999.4(FBN2):c.525T>A (p.Cys175Ter) rs863223547
NM_001999.4(FBN2):c.5275A>G (p.Lys1759Glu) rs201113098
NM_001999.4(FBN2):c.5283G>T (p.Met1761Ile) rs2126842957
NM_001999.4(FBN2):c.529C>T (p.Gln177Ter)
NM_001999.4(FBN2):c.533-96_533-92del rs3059402
NM_001999.4(FBN2):c.5374_5376delinsTTTAAAGTG (p.Gly1792delinsPheLysVal)
NM_001999.4(FBN2):c.5427T>G (p.Ile1809Met) rs756365546
NM_001999.4(FBN2):c.5528A>G (p.Asp1843Gly) rs2126839169
NM_001999.4(FBN2):c.5548+9A>C rs1057522115
NM_001999.4(FBN2):c.5568T>A (p.Asn1856Lys) rs1201284691
NM_001999.4(FBN2):c.5600G>A (p.Cys1867Tyr) rs2126838836
NM_001999.4(FBN2):c.5673A>G (p.Val1891=) rs746792907
NM_001999.4(FBN2):c.5675-9delinsTT rs2126838260
NM_001999.4(FBN2):c.5692G>C (p.Glu1898Gln) rs767932789
NM_001999.4(FBN2):c.5759A>G (p.His1920Arg) rs1554119710
NM_001999.4(FBN2):c.5800+183_5800+215del rs1283210701
NM_001999.4(FBN2):c.5800+20C>T rs1554119695
NM_001999.4(FBN2):c.581A>C (p.Asn194Thr)
NM_001999.4(FBN2):c.5824C>G (p.Pro1942Ala) rs761603109
NM_001999.4(FBN2):c.584G>A (p.Arg195His) rs746890032
NM_001999.4(FBN2):c.5896A>G (p.Thr1966Ala) rs863223579
NM_001999.4(FBN2):c.5914C>T (p.Leu1972=) rs1554119518
NM_001999.4(FBN2):c.5917+201T>A rs26023
NM_001999.4(FBN2):c.5917+201T>G rs26023
NM_001999.4(FBN2):c.5917+81dup rs113036345
NM_001999.4(FBN2):c.5917+89del rs113036345
NM_001999.4(FBN2):c.5918-10T>C rs547697385
NM_001999.4(FBN2):c.5918-5T>A rs1057524021
NM_001999.4(FBN2):c.5950G>A (p.Val1984Met) rs1064796333
NM_001999.4(FBN2):c.5976T>A (p.Asn1992Lys) rs1749717202
NM_001999.4(FBN2):c.6033del (p.Asn2013fs) rs2126834363
NM_001999.4(FBN2):c.6046G>C (p.Asp2016His) rs1749711886
NM_001999.4(FBN2):c.6166+118C>A rs11959932
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.6209G>T (p.Gly2070Val) rs1749324727
NM_001999.4(FBN2):c.6221A>G (p.Asn2074Ser) rs2126822099
NM_001999.4(FBN2):c.6244_6246del (p.Leu2082del) rs2126822071
NM_001999.4(FBN2):c.6252C>T (p.Pro2084=) rs1057524589
NM_001999.4(FBN2):c.629-11C>T rs2127084540
NM_001999.4(FBN2):c.631T>G (p.Tyr211Asp) rs1554071528
NM_001999.4(FBN2):c.6349A>G (p.Lys2117Glu) rs2126821327
NM_001999.4(FBN2):c.6414C>T (p.Asp2138=) rs1449873424
NM_001999.4(FBN2):c.6421G>A (p.Glu2141Lys)
NM_001999.4(FBN2):c.644C>T (p.Pro215Leu) rs2127084495
NM_001999.4(FBN2):c.6497A>G (p.His2166Arg) rs1388581442
NM_001999.4(FBN2):c.6511+100_6511+106del rs150320794
NM_001999.4(FBN2):c.6512-2A>G rs863223580
NM_001999.4(FBN2):c.6526C>T (p.Leu2176Phe)
NM_001999.4(FBN2):c.6534C>T (p.Ser2178=) rs1057524084
NM_001999.4(FBN2):c.6546T>G (p.Cys2182Trp) rs1554118137
NM_001999.4(FBN2):c.6556C>T (p.Gln2186Ter) rs1415043313
NM_001999.4(FBN2):c.6623G>C (p.Gly2208Ala) rs200489152
NM_001999.4(FBN2):c.6638-80G>T rs28763930
NM_001999.4(FBN2):c.6645T>A (p.Asp2215Glu) rs2126818736
NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile) rs863223583
NM_001999.4(FBN2):c.6689A>G (p.Asn2230Ser) rs863223584
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser) rs863223612
NM_001999.4(FBN2):c.672G>A (p.Met224Ile) rs371292311
NM_001999.4(FBN2):c.6757+1G>A
NM_001999.4(FBN2):c.6757+3A>G rs1057523248
NM_001999.4(FBN2):c.6758-12del rs757126046
NM_001999.4(FBN2):c.6760A>T (p.Ile2254Phe)
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=) rs140044610
NM_001999.4(FBN2):c.67G>A (p.Ala23Thr)
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=) rs377742525
NM_001999.4(FBN2):c.6869A>G (p.Lys2290Arg) rs2126817399
NM_001999.4(FBN2):c.6894T>A (p.Cys2298Ter)
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=) rs886039130
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6948C>G (p.Ile2316Met) rs17608368
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.6955T>C (p.Phe2319Leu) rs863223585
NM_001999.4(FBN2):c.7013-7del rs1554117268
NM_001999.4(FBN2):c.7055G>C (p.Gly2352Ala) rs764330020
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys) rs771718967
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr) rs771718967
NM_001999.4(FBN2):c.7112C>G (p.Ser2371Ter) rs1461140915
NM_001999.4(FBN2):c.7184_7185delinsTC (p.Cys2395Phe)
NM_001999.4(FBN2):c.7199_7200delinsCC (p.Ser2400Thr) rs2126809625
NM_001999.4(FBN2):c.71A>G (p.Gln24Arg) rs764396688
NM_001999.4(FBN2):c.7205G>T (p.Arg2402Leu) rs148014419
NM_001999.4(FBN2):c.7241G>T (p.Gly2414Val) rs2126809569
NM_001999.4(FBN2):c.7293C>T (p.Ala2431=) rs1057521075
NM_001999.4(FBN2):c.734G>C (p.Arg245Pro) rs747507457
NM_001999.4(FBN2):c.7369C>T (p.Pro2457Ser) rs863223587
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.7445C>T (p.Thr2482Ile) rs2126808771
NM_001999.4(FBN2):c.7448A>T (p.Asp2483Val)
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro) rs1056653104
NM_001999.4(FBN2):c.7546T>C (p.Ser2516Pro) rs2126807303
NM_001999.4(FBN2):c.7559G>A (p.Gly2520Glu) rs766586054
NM_001999.4(FBN2):c.7562A>G (p.Tyr2521Cys) rs2126807281
NM_001999.4(FBN2):c.7595-18G>C rs1554116721
NM_001999.4(FBN2):c.7636C>G (p.Leu2546Val) rs863223588
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala) rs764514988
NM_001999.4(FBN2):c.7672T>G (p.Cys2558Gly) rs863223589
NM_001999.4(FBN2):c.7712-5G>A rs766722063
NM_001999.4(FBN2):c.7757G>C (p.Gly2586Ala) rs1447205905
NM_001999.4(FBN2):c.7957G>A (p.Val2653Ile)
NM_001999.4(FBN2):c.7977C>G (p.Ser2659=) rs1057524372
NM_001999.4(FBN2):c.7A>C (p.Arg3=) rs1466844222
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr) rs763870762
NM_001999.4(FBN2):c.8041C>T (p.Pro2681Ser)
NM_001999.4(FBN2):c.8061_8067delinsG (p.Asp2687_Phe2689delinsGlu) rs863223597
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.8082C>T (p.His2694=) rs142755118
NM_001999.4(FBN2):c.809G>A (p.Arg270His) rs148971572
NM_001999.4(FBN2):c.8100G>C (p.Ser2700=) rs138659121
NM_001999.4(FBN2):c.8117G>T (p.Cys2706Phe) rs1010740898
NM_001999.4(FBN2):c.811A>G (p.Thr271Ala) rs201988564
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met) rs754101758
NM_001999.4(FBN2):c.8139G>A (p.Thr2713=) rs1057523293
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg) rs772569905
NM_001999.4(FBN2):c.8192+6G>A rs752575354
NM_001999.4(FBN2):c.8192+80G>T rs73341377
NM_001999.4(FBN2):c.8193-18T>A rs1057521159
NM_001999.4(FBN2):c.8279A>C (p.Glu2760Ala) rs56023452
NM_001999.4(FBN2):c.832G>C (p.Asp278His) rs2127056965
NM_001999.4(FBN2):c.8364+2T>C rs2126793713
NM_001999.4(FBN2):c.8364+7A>G rs185052980
NM_001999.4(FBN2):c.8365-90C>A rs115772552
NM_001999.4(FBN2):c.8478G>C (p.Gln2826His) rs1161871936
NM_001999.4(FBN2):c.8482C>T (p.Leu2828Phe) rs2126791897
NM_001999.4(FBN2):c.8506A>G (p.Ile2836Val) rs1249852107
NM_001999.4(FBN2):c.8520C>G (p.Asn2840Lys) rs139098335
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu) rs200345491
NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser) rs886059891
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=) rs778576181
NM_001999.4(FBN2):c.8648T>C (p.Leu2883Pro) rs863223614
NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys) rs779659640
NM_001999.4(FBN2):c.8692G>T (p.Glu2898Ter) rs876661196
NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)
NM_001999.4(FBN2):c.905G>C (p.Arg302Thr) rs863223616
NM_001999.4(FBN2):c.920A>G (p.His307Arg) rs1754067808
NM_001999.4(FBN2):c.952+11C>T rs1157854895
NM_001999.4(FBN2):c.952+141A>C rs7356632
NM_001999.4(FBN2):c.953-74dup rs770303611
NM_001999.4(FBN2):c.953-9del rs757659311
NM_001999.4(FBN2):c.973A>G (p.Ile325Val) rs748879016

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.